Canonical Allele Identifier: CA372581737

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.145007278C>A (hg19) ; chr8:g.143933110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143933110C>A , CM000670.2:g.143933110C>A	GRCh38
NC_000008.10:g.145007278C>A , CM000670.1:g.145007278C>A	GRCh37
NC_000008.9:g.145079266C>A	NCBI36
NG_012492.1:g.48636G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1552G>T	ENSP00000437303.2:p.Val518Leu
ENST00000685198.1:c.1471G>T	ENSP00000510528.1:p.Val491Leu
ENST00000687971.1:c.1138G>T	ENSP00000510788.1:p.Val380Leu
ENST00000693060.1:c.1351G>T	ENSP00000510329.1:p.Val451Leu
ENST00000345136.8:c.1420G>T MANE Select	ENSP00000344848.3:p.Val474Leu
ENST00000527303.2:c.1501G>T	ENSP00000433982.2:p.Val501Leu
ENST00000322810.8:c.1831G>T	ENSP00000323856.4:p.Val611Leu
ENST00000345136.7:c.1420G>T	ENSP00000344848.3:p.Val474Leu
ENST00000354589.7:c.1420G>T	ENSP00000346602.3:p.Val474Leu
ENST00000354958.6:c.1354G>T	ENSP00000347044.2:p.Val452Leu
ENST00000356346.7:c.1378G>T MANE Plus Clinical	ENSP00000348702.3:p.Val460Leu
ENST00000357649.6:c.1432G>T	ENSP00000350277.2:p.Val478Leu
ENST00000398774.6:c.1324G>T	ENSP00000381756.2:p.Val442Leu
ENST00000436759.6:c.1501G>T	ENSP00000388180.2:p.Val501Leu
ENST00000527096.5:c.1489G>T	ENSP00000434583.1:p.Val497Leu
ENST00000528025.5:c.1552G>T	ENSP00000437303.1:p.Val518Leu
NM_000445.4:c.1501G>T	NP_000436.2:p.Val501Leu
NM_201378.3:c.1378G>T	NP_958780.1:p.Val460Leu
NM_201379.2:c.1354G>T	NP_958781.1:p.Val452Leu
NM_201380.3:c.1831G>T	NP_958782.1:p.Val611Leu
NM_201381.2:c.1324G>T	NP_958783.1:p.Val442Leu
NM_201382.3:c.1420G>T	NP_958784.1:p.Val474Leu
NM_201383.2:c.1432G>T	NP_958785.1:p.Val478Leu
NM_201384.2:c.1420G>T	NP_958786.1:p.Val474Leu
XM_005250976.2:c.1846G>T	XP_005251033.1:p.Val616Leu
XM_005250978.2:c.1447G>T	XP_005251035.1:p.Val483Leu
XM_005250979.3:c.1435G>T	XP_005251036.1:p.Val479Leu
XM_005250980.3:c.1435G>T	XP_005251037.1:p.Val479Leu
XM_005250981.2:c.1393G>T	XP_005251038.1:p.Val465Leu
XM_005250982.2:c.1369G>T	XP_005251039.1:p.Val457Leu
XM_005250983.2:c.1351G>T	XP_005251040.1:p.Val451Leu
XM_005250984.3:c.1339G>T	XP_005251041.1:p.Val447Leu
XM_006716588.2:c.1516G>T	XP_006716651.1:p.Val506Leu
XM_006716589.2:c.1366G>T	XP_006716652.1:p.Val456Leu
XM_006716590.2:c.1366G>T	XP_006716653.1:p.Val456Leu
XM_011517130.1:c.1435G>T	XP_011515432.1:p.Val479Leu
XM_011517131.1:c.1351G>T	XP_011515433.1:p.Val451Leu
XM_011517132.1:c.1447G>T	XP_011515434.1:p.Val483Leu
XM_005250976.4:c.1846G>T	XP_005251033.1:p.Val616Leu
XM_005250978.3:c.1447G>T	XP_005251035.1:p.Val483Leu
XM_005250979.4:c.1435G>T	XP_005251036.1:p.Val479Leu
XM_005250980.4:c.1435G>T	XP_005251037.1:p.Val479Leu
XM_005250981.3:c.1393G>T	XP_005251038.1:p.Val465Leu
XM_005250982.4:c.1369G>T	XP_005251039.1:p.Val457Leu
XM_005250984.5:c.1339G>T	XP_005251041.1:p.Val447Leu
XM_006716588.3:c.1516G>T	XP_006716651.1:p.Val506Leu
XM_006716590.3:c.1366G>T	XP_006716653.1:p.Val456Leu
XM_011517130.2:c.1435G>T	XP_011515432.1:p.Val479Leu
XM_011517131.2:c.1351G>T	XP_011515433.1:p.Val451Leu
XM_011517132.2:c.1447G>T	XP_011515434.1:p.Val483Leu
NM_000445.5:c.1501G>T	NP_000436.2:p.Val501Leu
NM_201378.4:c.1378G>T MANE Plus Clinical	NP_958780.1:p.Val460Leu
NM_201379.3:c.1354G>T	NP_958781.1:p.Val452Leu
NM_201380.4:c.1831G>T	NP_958782.1:p.Val611Leu
NM_201381.3:c.1324G>T	NP_958783.1:p.Val442Leu
NM_201382.4:c.1420G>T	NP_958784.1:p.Val474Leu
NM_201383.3:c.1432G>T	NP_958785.1:p.Val478Leu
NM_201384.3:c.1420G>T MANE Select	NP_958786.1:p.Val474Leu